Mission

Core Faculty

Allison Ashley-Koch, PhD, is an Associate Professor in the Section of Medical Genetics, Department of Medicine at Duke University Medical Center. She received her Ph.D. in genetics and molecular biology from Emory University in 1997. Her research focuses on the genetic epidemiology of Mendelian and complex genetic disorders. In terms of Mendelian inherited disorders, she is working to identify novel genes involved in muscular dystrophy, as well as to identify genes that modify the clinical severity ("genetic modifiers") of sickle cell disease. Dr. Ashley-Koch is also interested in the genetics of essential tremor, which has been described as a Mendelian disorder, but may have a more complex inheritance in most cases. Much of her work focuses on complex disorders of a neurological or psychiatric nature. Dr. Ashley-Koch is working to identify novel genes and gene-gene and gene-environment interactions which contribute to the occurrence of neural tube defects (NTD's), including anencephaly and spina bifida. She is also studying the genetic etiology of Chiari type I malformation, with or without syringomyelia (CMI) and serves on the scientific board of the Chiari & Syringomyelia Foundation, Inc. Dr. Ashley-Koch and colleagues are investigating improved phenotyping methods, such as imaging techniques, to better identify individuals within CMI families who are "at risk" and ultimately to identify associated genes. Another primary interest is the genetic basis of attention deficit hyperactivity disorder, particularly with respect to the influence of genetic factors which contribute to the variability in the presentation of ADHD symptoms across development. A related interest is the co-occurrence of smoking and ADHD and the genetic liabilities which may be in common across these conditions. Dr. Ashley-Koch has several other psychiatric studies that are also on-going, including the genetic basis of autism, bipolar disorder, depression and trichotillomania. Additionally, she is part of larger, collaborative efforts to examine the very complex interplay among genetic, social and environmental factors as they contribute to premature birth and low birthweight, as well as risk for cardiovascular disease. In all her studies, Dr. Ashley-Koch is taking a variety of molecular approaches to identify putative genes, including selected candidate gene association analysis, whole genome association/linkage analysis, and candidate gene mutation analysis.

PhD, 1997, Genetics and Molecular Biology, Emory University, Atlanta, GA

Selected Publications

ADHD
Markunas CA, Quinn KS, Collins AL, Garrett ME, Lachiewicz AM, Sommerd JL, Morrissey-Kane E, Kollins SH, Anastopoulos AD, Ashley-Koch AE. Genetic variants in SLC9A9 are associated with measures of Attention-deficit/hyperactivity disorder symptoms in families. Psychiatr Genet. 2009 Dec 18. [Epub ahead of print]

Kollins SH, Garrett ME, McClernon FJ, Lachiewicz AM, Morrissey-Kane E, FitzGerald D, Collins AL, Anastopoulos AD, Ashley-Koch AE. Effects of postnatal parental smoking on parent and teacher ratings of ADHD and oppositional symptoms. J Nerv Ment Dis. 197(6):442-9, 2009.

McClernon FJ, Fuemmeler BF, Kollins SH, Kail ME, Ashley-Koch AE. Interactions between genotype and retrospective ADHD symptoms predict lifetime smoking risk in a sample of young adults. Nicotine Tob Res. 10(1):117-27, 2008.

Kollins SH, Anastopoulos AD, Lachiewicz AM, Fitzgerald D, Morrissey-Kane E, Garrett ME, Keatts SL, Ashley-Koch AE. SNPs in dopamine D2 receptor gene (DRD2) and norepinephrine transporter gene (NET) are associated with continuous performance task (CPT) phenotypes in ADHD children and their families. Am J Med Genet B Neuropsychiatr Genet. 5;147B(8):1580-8, 2008.

Autism
Ashley-Koch AE, Jaworski J, Ma DQ, Mei H, Ritchie MD, Skaar DA, Delong GR, Worley G, Abramson RK, Wright HH, Cuccaro ML, Gilbert JR, Martin ER, Pericak-Vance MA. Investigation of potential Gene-gene interactions between APOE and RELN contributing to autism risk. Psychiatr Genet. (4): 221-6, 2007.

Ashley-Koch AE, Mei H, Jaworski J, Ritchie MD, Menold MM, Delong GR, Abramson R, Wright HH, Hussman JP, Cuccaro ML, Gilbert JR, Martin ER, Pericak-Vance MA. An Analysis Paradigm for Investigating Multi-locus Effects in Complex Disease: Examination of Three GABA Receptor Subunit Genes on 15q11-q13 as Risk Factors for Autistic Disorder. Ann Hum Genet. 70(Pt 3):281-92, 2006.

Depression
Taylor WD, McQuoid DR, Ashley-Koch A, MacFall JR, Bridgers J, Krishnan KR, Steffens DC. The BDNF Val66Met genotype and six-month remission rates in late-life depression. Pharmacogenomics J. 2010 Mar 2.
[Epub ahead of print].

Fuemmeler BF, Agurs-Collins T, McClernon FJ, Kollins SH, Garrett ME, Ashley-Koch AE. Interactions Between Genotype and Depressive Symptoms on Obesity. Behav Genet. 39(3):296-305, 2009.

NTD
Deak KL, Siegel DG, George TM, Gregory S, Ashley-Koch A, Speer MC; NTD Collaborative Group. Further evidence for a maternal genetic effect and a sex-influenced effect contributing to risk for human neural tube defects. Birth Defects Res A Clin Mol Teratol. 82(10):662-9, 2008.

Stamm DS, Siegel DG, Mehltretter L, Connelly JJ, Trott A, Ellis N, Zismann V, Stephan DA, George TM, Vekemans M, Ashley-Koch A, Gilbert JR, Gregory SG, Speer MC; NTD Collaborative Group. Refinement of 2q and 7p loci in a large multiplex NTD family. Birth Defects Res A Clin Mol Teratol. 82(6):441-52, 2008.

SCD
Ashley-Koch AE, Okocha EC, Garrett ME, Soldano K, De Castro LM, Jonassaint JC, Orringer EP, Eckman JR, Telen MJ. MYH9 and APOL1 are both associated with sickle cell disease nephropathy. Br J Haematol. Nov;155(3):386-94, 2011. PMID:21910715

Sebastiani P, Solovieff N, Hartley SW, Milton JN, Riva A, Dworkis DA, Melista E, Klings ES, Garrett ME, Telen MJ, Ashley-Koch A, Baldwin CT, Steinberg MH. Genetic modifiers of the severity of sickle cell anemia identified through a genome-wide association study. Am J Hematol. 85(1):29-35, 2010.

Ashley-Koch AE, Elliott L, Kail ME, De Castro LM, Jonassaint J, Jackson TL, Price J, Ataga KI, Levesque MC, Weinberg JB, Orringer EP, Collins A, Vance JM, Telen MJ. Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease. Blood. 111(12):5721-6, 2008.

Afenyi-Annan A, Kail M, Combs MR, Orringer EP, Ashley-Koch A, Telen MJ. Lack of Duffy antigen expression is associated with organ damage in patients with sickle cell disease. Transfusion. 48(5):917-24, 2008.

Eyler CE, Jackson T, Elliott LE, De Castro LM, Jonassaint J, Ashley-Koch A, Telen MJ. beta(2)-Adrenergic receptor and adenylate cyclase gene polymorphisms affect sickle red cell adhesion. Br J Haematol. 141(1):105-8, 2008.

Trichotillomania
Züchner S, Wendland JR, Ashley-Koch AE, Collins AL, Tran-Viet KN, Quinn K, Timpano KC, Cuccaro ML, Pericak-Vance MA, Steffens DC, Krishnan KR, Feng G, Murphy DL. Multiple rare SAPAP3 missense variants in trichotillomania and OCD. Mol Psychiatry. 14(1):6-9, 2009.

Züchner S, Cuccaro ML, Tran-Viet KN, Cope H, Krishnan R, Pericak-Vance MA, Wright HH, Ashley-Koch AE. SLITRK1 mutations in trichotillomania. Mol Psychiatry. 11(10):888-9, 2006.

Contact at:
Center for Human Genetics
DUMC Box 2903
Durham, NC 27710
Phone: 1-919-684-1805
Fax: 1-919-684-0912
E-mail: allison.ashleykoch@duke.edu

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